Athena Diagnostics - Testing that Makes a Difference
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SCN1A Deletion Test #537
Type of Disorder: Epilepsy
Typical Presentation: Febrile seizures, which are often prolonged or focal, and afebrile hemiclonic or generalized seizures in the first year of life. Patients usually develop other symptoms after age one, including myoclonic, absences, atonic, and partial seizures.
Disease(s) tested for: Severe Myoclonic Epilepsy of Infancy (SMEI), Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
Test Details
Test Code: 537
Profiles that contain this test: Febrile Seizures Evaluation
Informed Consent Required: Yes
Medicare ABN Required: Yes
Technical Information
Utility: Detects exonic deletions in the SCN1A gene
Methodology: Multiplex-Ligation Probe Amplification
Reference Value: No deletions detected
CPT Code(s): 83891(1), 83896(26), 83900(1), 83901(24), 83909(1), 83912(1)
Shipping Considerations
Preferred Specimen Requirements
Type: Whole blood
Minimum Volume: 10 mL
Collection Tube: Lavender top (EDTA)
Storage Conditions: Do not freeze, refrigerate
Shipping Conditions: Room temperature, avoid freezing
Test Turnaround: 21-28 days
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